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Results: 1 to 14 of 14

Tests names and labsConditionsGenes, analytes, and microbesMethods

Beckwith-Wiedemann Syndrome (methylation test)

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center
Netherlands
22
  • M Methylation analysis

KCNQ1OT1 Gene Beckwith-Wiedemann syndrome NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

High-Resolution Rapid Microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Beckwith-Wiedemann syndrome, 130650, Autosomal dominant (Beckwith-Wiedemann syndrome) (KCNQ1OT1 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Beckwith-Wiedemann syndrome, 130650, Autosomal dominant (Beckwith-Wiedemann syndrome) (KCNQ1OT1 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Beckwith-Wiedemann syndrome panel

Genologica Medica
Spain
2010
  • C Sequence analysis of the entire coding region

Beckwith-Wiedemann syndrome panel. NGS panel of 10 genes.

Genologica Medica
Spain
2010
  • C Sequence analysis of the entire coding region

Beckwith-Wiedemann syndrome: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
12
  • C Sequence analysis of the entire coding region

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

BECKWITH-WIEDEMANN SYNDROME

Laboratorio de Genetica Clinica SL
Spain
14
  • M Methylation analysis
  • C Sequence analysis of the entire coding region
  • U Uniparental disomy study (UPD)

CAKUT

Hildebrandt Laboratory Boston Children's Hospital
United States
2204
  • C Sequence analysis of the entire coding region

Beckwith-Wiedemann syndrome

Praxis fuer Humangenetik Wien
Austria
11
  • M Methylation analysis

Test for Beckwith-Wiedemann Syndrome

Genome Diagnostics Laboratory The Hospital for Sick Children
Canada
13
  • D Deletion/duplication analysis
  • M Methylation analysis
  • C Sequence analysis of the entire coding region
  • U Uniparental disomy study (UPD)

Results: 1 to 14 of 14

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.